Neurofibromatosis is a complex multi-system human disorder caused by the mutation of neurofibromin. Neurofibromatosis causes tumors along the nervous system which can grow anywhere on the body. Neurofibromatosis is one of the most common genetic disorders and an autosomal dominant disorder.
Common symptoms of neurofibromatosis include brownish-red spots in the colored part of the eye called Lisch nodules and neurofibromas. Scoliosis (curvature of the spine), learning disabilities, vision disorders, mental disabilities, multiple café au lait spots and epilepsy may be also accompanied.
Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein, called neurofibromin, which is needed for normal function in many human cell types.
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Cafe au lait macule seen in Neurofibromatosis type 1 (NF-1)
Neurofibromatosis is a neurocutaneous disorder characterized by tumors in the nervous system and skin. Neurofibromatosis types 1 and 2 are the most common and are distinct entities. Neurofibromatosis type 1, or von Recklinghausen disease, is an autosomal dominant disease. Neurofibromatosis type 1 presents with neurofibromas, cafe-au-lait macules, freckling, and optic gliomas. It is a clinical diagnosis. Neurofibromatosis type 2 (NF2) is a disease characterized by bilateral vestibular schwannomas (VS) and meningiomas. It has an autosomal dominant inheritance pattern. Treatment for neurofibromatosis types 1 and 2 is clinical monitoring and medical intervention when appropriate.
Common symptoms of neurofibromatosis include brownish-red spots in the colored part of the eye called Lisch nodules and neurofibromas. Scoliosis (curvature of the spine), learning disabilities, vision disorders, mental disabilities, multiple café au lait spots and epilepsy may be also accompanied.
There is no specific treatment as of yet.